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Q92187

- SIA8D_HUMAN

UniProt

Q92187 - SIA8D_HUMAN

Protein

CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase

Gene

ST8SIA4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      Previous versions | rss
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    Functioni

    Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells.

    Pathwayi

    GO - Molecular functioni

    1. alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity Source: BHF-UCL
    2. sialic acid binding Source: BHF-UCL

    GO - Biological processi

    1. axon guidance Source: Reactome
    2. cellular protein modification process Source: ProtInc
    3. ganglioside biosynthetic process Source: BHF-UCL
    4. nervous system development Source: ProtInc
    5. N-glycan processing Source: BHF-UCL
    6. oligosaccharide metabolic process Source: BHF-UCL
    7. protein glycosylation Source: BHF-UCL
    8. sialylation Source: GOC

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_18312. NCAM1 interactions.
    REACT_200874. Sialic acid metabolism.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT29. Glycosyltransferase Family 29.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase (EC:2.4.99.-)
    Alternative name(s):
    Alpha-2,8-sialyltransferase 8D
    Polysialyltransferase-1
    Sialyltransferase 8D
    Short name:
    SIAT8-D
    Sialyltransferase St8Sia IV
    Short name:
    ST8SiaIV
    Gene namesi
    Name:ST8SIA4
    Synonyms:PST, PST1, SIAT8D
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:10871. ST8SIA4.

    Subcellular locationi

    GO - Cellular componenti

    1. Golgi membrane Source: Reactome
    2. integral component of Golgi membrane Source: InterPro

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35772.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 359359CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferasePRO_0000149293Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi50 – 501N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi74 – 741N-linked (GlcNAc...)1 Publication
    Glycosylationi119 – 1191N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi142 ↔ 2921 Publication
    Disulfide bondi156 ↔ 3561 Publication
    Glycosylationi204 – 2041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi219 – 2191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi327 – 3271N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ92187.
    PRIDEiQ92187.

    PTM databases

    PhosphoSiteiQ92187.

    Expressioni

    Tissue specificityi

    Highly expressed in fetal brain, lung and kidney and in adult heart, spleen and thymus. Present to a lesser extent in adult brain, placenta, lung, large and small intestine and peripheral blood leukocytes.

    Gene expression databases

    ArrayExpressiQ92187.
    BgeeiQ92187.
    CleanExiHS_ST8SIA4.
    GenevestigatoriQ92187.

    Organism-specific databases

    HPAiHPA051126.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92187.
    SMRiQ92187. Positions 123-318.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini21 – 359339LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2013Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 29 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG324948.
    HOGENOMiHOG000232070.
    HOVERGENiHBG056466.
    InParanoidiQ92187.
    KOiK06614.
    OMAiSVRKRWT.
    OrthoDBiEOG7VQJD1.
    PhylomeDBiQ92187.
    TreeFamiTF352820.

    Family and domain databases

    InterProiIPR001675. Glyco_trans_29.
    IPR012163. Sialyl_trans.
    [Graphical view]
    PfamiPF00777. Glyco_transf_29. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005557. Sialyl_trans. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q92187-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MRSIRKRWTI CTISLLLIFY KTKEIARTEE HQETQLIGDG ELSLSRSLVN    50
    SSDKIIRKAG SSIFQHNVEG WKINSSLVLE IRKNILRFLD AERDVSVVKS 100
    SFKPGDVIHY VLDRRRTLNI SHDLHSLLPE VSPMKNRRFK TCAVVGNSGI 150
    LLDSECGKEI DSHNFVIRCN LAPVVEFAAD VGTKSDFITM NPSVVQRAFG 200
    GFRNESDREK FVHRLSMLND SVLWIPAFMV KGGEKHVEWV NALILKNKLK 250
    VRTAYPSLRL IHAVRGYWLT NKVPIKRPST GLLMYTLATR FCDEIHLYGF 300
    WPFPKDLNGK AVKYHYYDDL KYRYFSNASP HRMPLEFKTL NVLHNRGALK 350
    LTTGKCVKQ 359
    Length:359
    Mass (Da):41,295
    Last modified:February 1, 1997 - v1
    Checksum:iC53FFDF658926D61
    GO
    Isoform 2 (identifier: Q92187-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         169-359: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:168
    Mass (Da):19,260
    Checksum:i2B9ED426B1A3C9F2
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71R → K.1 Publication
    Corresponds to variant rs199768560 [ dbSNP | Ensembl ].
    VAR_068976
    Natural varianti92 – 921E → G in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036169

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei169 – 359191Missing in isoform 2. 1 PublicationVSP_044867Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L41680 mRNA. Translation: AAC41775.1.
    AK292872 mRNA. Translation: BAF85561.1.
    AC010411 Genomic DNA. No translation available.
    AC117530 Genomic DNA. No translation available.
    CH471086 Genomic DNA. Translation: EAW49104.1.
    CH471086 Genomic DNA. Translation: EAW49105.1.
    BC027866 mRNA. Translation: AAH27866.1.
    BC053657 mRNA. Translation: AAH53657.1.
    CCDSiCCDS4091.1. [Q92187-1]
    CCDS47252.1. [Q92187-2]
    PIRiI59403.
    RefSeqiNP_005659.1. NM_005668.5. [Q92187-1]
    NP_778222.1. NM_175052.2. [Q92187-2]
    UniGeneiHs.308628.

    Genome annotation databases

    EnsembliENST00000231461; ENSP00000231461; ENSG00000113532. [Q92187-1]
    ENST00000451528; ENSP00000428914; ENSG00000113532. [Q92187-2]
    GeneIDi7903.
    KEGGihsa:7903.
    UCSCiuc003knk.3. human. [Q92187-1]
    uc003knl.3. human.

    Polymorphism databases

    DMDMi2494834.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    ST8Sia IV

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L41680 mRNA. Translation: AAC41775.1 .
    AK292872 mRNA. Translation: BAF85561.1 .
    AC010411 Genomic DNA. No translation available.
    AC117530 Genomic DNA. No translation available.
    CH471086 Genomic DNA. Translation: EAW49104.1 .
    CH471086 Genomic DNA. Translation: EAW49105.1 .
    BC027866 mRNA. Translation: AAH27866.1 .
    BC053657 mRNA. Translation: AAH53657.1 .
    CCDSi CCDS4091.1. [Q92187-1 ]
    CCDS47252.1. [Q92187-2 ]
    PIRi I59403.
    RefSeqi NP_005659.1. NM_005668.5. [Q92187-1 ]
    NP_778222.1. NM_175052.2. [Q92187-2 ]
    UniGenei Hs.308628.

    3D structure databases

    ProteinModelPortali Q92187.
    SMRi Q92187. Positions 123-318.
    ModBasei Search...
    MobiDBi Search...

    Protein family/group databases

    CAZyi GT29. Glycosyltransferase Family 29.

    PTM databases

    PhosphoSitei Q92187.

    Polymorphism databases

    DMDMi 2494834.

    Proteomic databases

    PaxDbi Q92187.
    PRIDEi Q92187.

    Protocols and materials databases

    DNASUi 7903.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000231461 ; ENSP00000231461 ; ENSG00000113532 . [Q92187-1 ]
    ENST00000451528 ; ENSP00000428914 ; ENSG00000113532 . [Q92187-2 ]
    GeneIDi 7903.
    KEGGi hsa:7903.
    UCSCi uc003knk.3. human. [Q92187-1 ]
    uc003knl.3. human.

    Organism-specific databases

    CTDi 7903.
    GeneCardsi GC05M100171.
    HGNCi HGNC:10871. ST8SIA4.
    HPAi HPA051126.
    MIMi 602547. gene.
    neXtProti NX_Q92187.
    PharmGKBi PA35772.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG324948.
    HOGENOMi HOG000232070.
    HOVERGENi HBG056466.
    InParanoidi Q92187.
    KOi K06614.
    OMAi SVRKRWT.
    OrthoDBi EOG7VQJD1.
    PhylomeDBi Q92187.
    TreeFami TF352820.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_18312. NCAM1 interactions.
    REACT_200874. Sialic acid metabolism.

    Miscellaneous databases

    ChiTaRSi ST8SIA4. human.
    GeneWikii ST8SIA4.
    GenomeRNAii 7903.
    NextBioi 30362.
    PROi Q92187.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92187.
    Bgeei Q92187.
    CleanExi HS_ST8SIA4.
    Genevestigatori Q92187.

    Family and domain databases

    InterProi IPR001675. Glyco_trans_29.
    IPR012163. Sialyl_trans.
    [Graphical view ]
    Pfami PF00777. Glyco_transf_29. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005557. Sialyl_trans. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Expression cloning of a human polysialyltransferase that forms the polysialylated neural cell adhesion molecule present in embryonic brain."
      Nakayama J., Fukuda M.N., Fredette B., Ranscht B., Fukuda M.
      Proc. Natl. Acad. Sci. U.S.A. 92:7031-7035(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal brain.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Trachea.
    3. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-7.
      Tissue: Brain and Lung.
    6. "Unique disulfide bond structures found in ST8Sia IV polysialyltransferase are required for its activity."
      Angata K., Yen T.Y., El-Battari A., Macher B.A., Fukuda M.
      J. Biol. Chem. 276:15369-15377(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISULFIDE BONDS, GLYCOSYLATION AT ASN-74.
    7. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-92.

    Entry informationi

    Entry nameiSIA8D_HUMAN
    AccessioniPrimary (citable) accession number: Q92187
    Secondary accession number(s): A8KA07
    , G3V104, Q8N1F4, Q92693
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: February 1, 1997
    Last modified: October 1, 2014
    This is version 126 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3